Table 2. Variants detected by Sanger sequencing in two affected individuals.

Gene	Number of exons	Variants detected	MAF	Notes
DISP1	7	Unknown c.75G>A p.Pro25Pro		Syn
		Unknown c.2835A>G p.Lys945Lys		Syn
		rs9441941 c.3822A>C p.Pro1274Pro	.292	Syn
TLR5	1	rs5744174 c.1846T>C p.Phe616Leu	.375	FV
		rs2072494 c.1775A>G p.Asn592Ser	.139	FV
SUSD4	9	None
BEND5	1	Unknown c.986G>A p.Gly329Asp		DNS
CAPN8	19	rs35539373 c.734C>A p.Ser245Tyr	.472	FV
		rs61823553 c.1775C>T p.Thr592Met	.389	FV
CAPN2	21	rs17599 c.1702A>C p.Lys568Gln	.292	FV
		Unknown c.582G>A p.Ala194Ala		Syn
TP53BP2 (1, 12)	18	rs61749337 c.566C>T p.Ala189Val	ND	DNS
		rs34683843 c.685C>A p.Gln229Lys	.058	DNS
FBXO28	5	None
DEGS1 (1)	3	None
NVL (15, 22, 23)	23	rs7534447 c.456G>A p.Arg152Arg	.058	Syn
		rs3754090 c.738G>A p.Leu246Leu	.058	Syn
		rs34631151 c.1210G>A p.Val404Ile	.033
CNIH4 (3)	5	Unknown c.48T>G het p.Phe6Val		DNS
WDR26	13	None
MIR320B2	1	None
CNIH3	6	None

Syn = synonymous.

FV = frequent variant.

DNS = does not segregate with disease.

( ) indicates exons that could not be sequenced.